Hypogonadotropic hypogonadism (GMS)
Gene: CHD7
CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism type 5 (OMIM 612370)
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- CAKUT
- Differences in sex development
- Deafness and congenital structural abnormalities
- Monogenic hearing loss
- Intellectual disability
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Choanal atresia
- Ocular coloboma
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained young onset end-stage renal disease - additional genes
- Pituitary hormone deficiency
- Clefting
- Unexplained kidney failure in young people
- Monogenic short stature
- Hypogonadotropic hypogonadism
- Fetal anomalies
- Structural eye disease
- IUGR and IGF abnormalities
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
History Filter Activity
22 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: chd7 has been classified as Green List (High Evidence).
22 Mar 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to CHD7.
15 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 5 (OMIM 612370) for gene: CHD7
15 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown